Focal dermal hypoplasia

Orpha code: 2092OMIM code: 305600

Definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues, classically manifesting with skin abnormalities, limb defects, ocular malformations, and mild facial dysmorphism.

Disease data
Classification

Malformation syndrome

Synonyms
Goltz syndrome
Zespół Goltza
Zespół Goltza i Gorlina
Goltz-Gorlin syndrome
ORPHA code
2092
OMIM code
305600
ICD10 code
Q82.8
ICD11 code
LD27.0Y

No additional description.

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